Protein S–K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients
- 15 February 2006
- journal article
- Published by American Society of Hematology in Blood
- Vol. 107 (4), 1737-1738
- https://doi.org/10.1182/blood-2005-09-3892
Abstract
Of all the polymorphisms tested, only the frequency of protein S–K196E was statistically different between the 2 groups (χ2 = 38.3, P < .001) (Table 1). No other frequency differences were statistically significant. Two DVT patients were homozygous for the protein S–196E allele; however, no homozygotes were identified in the control group. One patient with the 196EE genotype first developed DVT following surgery at age 47, while the other patient developed DVT during pregnancy at age 32.This publication has 10 references indexed in Scilit:
- Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general populationJournal of Human Genetics, 2004
- Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activityProceedings of the National Academy of Sciences of the United States of America, 2002
- Potential of Carotid Enlargement as a Useful Indicator Affected by High Blood Pressure in a Large General Population of a Japanese CityStroke, 2000
- Role of hemostatic gene polymorphisms in venous and arterial thrombotic diseaseBlood, 2000
- A Common Genetic Polymorphism (46 C to T Substitution) in the 5′-Untranslated Region of the Coagulation Factor XII Gene Is Associated With Low Translation Efficiency and Decrease in Plasma Factor XII LevelBlood, 1998
- Recommendations for a nomenclature system for human gene mutationsHuman Mutation, 1998
- Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction.Proceedings of the National Academy of Sciences of the United States of America, 1995
- Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein SBlood, 1994
- A phenotypically neutral dimorphism of protein S: The substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the geneThrombosis Research, 1993
- Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site.Proceedings of the National Academy of Sciences of the United States of America, 1982